Revisiting the Wilson-Jungner criteria: How can supplemental criteria guide public health in the era of genetic screening?

Abstract

PURPOSE:: Advances in technology have made newborn screening for more than 50 inborn errors of metabolism possible using a dried blood sample. A framework is proposed that public health practitioners may use when considering candidate disorders for newborn screening panels. METHODS:: The framework expands on the 10 Wilson-Jungner criteria with the addition of 11 criteria specific to newborn screening. A calculation, the "pNBS Decision Score," is used to quantify results and rank candidate disorders. RESULTS:: The pNBS Decision Scores that were calculated for phenylketonuria (OMIM# 261600), cystic fibrosis (OMIM# 219700), Pompe disease (OMIM# 232300), and severe combined immunodeficiency (OMIM# 102700) support their inclusion as newborn screening disorders. The pNBS Decision Score suggests that Krabbe disease (OMIM# 245200) is not a candidate disorder for inclusion at this time. CONCLUSION:: The proposed framework adds to the ability of policy makers to quantify an essential portion of the process for adding disorders to newborn screening panels. Other factors such as ethical, legal, and social issues, clinical utility, and advocacy are also part of the policy process. The framework is not intended to replace existing nomination processes but rather to enhance those processes by encouraging iterative review of newborn screening-specific criteria. The use of the framework will provide consistency across a portion of the decision process. The public health community should take the opportunity to revisit the screening determinants of the Wilson-Jungner criteria from a 21st century perspective. The results suggest that this framework provides the public health practitioner with a consistent process for making an evidence-based decision.

Newborn screening for lysosomal storage diseases: an ethical and policy analysis

“…Despite some calls to ignore the Wilson and Jungner criteria as obsolete (Alexander and van Dyck 2006;Bailey et al 2006), the criteria have been reaffirmed by many task forces and organizations (Andrews et al 1994;Newborn Screening Task Force 2000;Moyer et al 2008) although minor modifications have been proposed (Andermann et al 2008;Petros 2011; National Screening Committee (UK) 2011).…”

“…Nevertheless, several states are preparing to introduce KD screening in the near future (Petros 2011). Like NY, these states plan to incorporate KD into their mandatory NBS programs, despite the fact that the identification of infantile KD and the timing of HSCT remain experimental.…”

Challenges for Worldwide Harmonization of Newborn Screening Programs

“…However, many of these potentially fatal conditions are not apparent at birth. When one of these diseases is not found and treated, it can affect the physical and mental development of the newborn and can lead to developmental disability, mental retardation, and/or premature death (3 ). Some of these disorders [e.g., phenylketonuria (PKU)] are not life threatening but may cause irreversible intellectual disability requiring expensive, life-long treatment.…”

“…The aim is to provide early diagnosis and to prevent or ameliorate the long-term consequences of the disease for infants who are suffering from a treatable metabolic/ genetic, endocrine, or hematologic condition (1,2 ). Fur-thermore, NBS programs have an expanded role in follow-up, diagnosis, and treatment (3)(4)(5)(6)(7)(8)(9)(10).…”

“…Over the last 5 years, CF has been added to NBS panels in almost all Western countries. Most of CF NBS programs have adopted an immunoreactive trypsinogen (IRT)-DNA algorithm that includes the mutational analysis of the CFTR (cystic fibrosis transmembrane conductance regulator) 3 gene. However, newborns with a positive screening test, but without a conclusive diagnosis of CF (including detection of heterozygotes and clinically equivocal forms) constitute a significantly large and newly recognized group created by these CF NBS programs (44 ).…”